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Up to: ALPL-related autosomal recessive hypophosphatasia
Severe hypophosphatasia
A rare, severe form of hypophosphatasia characterized by infantile rickets without elevated serum alkaline phosphatase (ALP) activity and a wide range of clinical manifestations due to hypomineralization. Individuals often present with these features in infancy or in the perinatal period.
This condition has no sub-types.